S5P (p.Ser5Pro) variant of NPPA (Natriuretic peptides A)
S5P (p.Ser5Pro) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- rs1645079555
- ClinGen CA338452089
- ClinVar RCV002043466
- Ensembl rs1645079555
- Uncertain significance
- Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.07
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.06
- CADD 14.10
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Atrial fibrillation, familial, 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)